Linked Data
ClinVar Variation Id:
341053
ClinVar RCV Id:
RCV000398365
dbSNP Id:
rs886057327
gnomAD v3:
22-26618015-G-A
gnomAD v4:
22-26618015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26618015G>A , CM000684.2:g.26618015G>A | GRCh38 |
| NC_000022.10:g.27013979G>A , CM000684.1:g.27013979G>A | GRCh37 |
| NC_000022.9:g.25343979G>A | NCBI36 |
| NG_009825.1:g.1052G>A | |
| NG_009826.1:g.5013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.-58C>T (CRYBB1) MANE Select | ENSP00000497249.1:n.-58C>T | |
| ENST00000215939.2:c.-58C>T (CRYBB1) | ENSP00000215939.2:n.-58C>T | |
| NM_001887.3:c.-58C>T (CRYBB1) | NP_001878.1:n.-58C>T | |
| XM_006724140.2:c.4-4570G>A (CRYBA4) | XP_006724203.1:n.4-4570G>A | |
| XM_011529898.1:c.24-3893G>A (CRYBA4) | XP_011528200.1:n.24-3893G>A | |
| XM_011529899.1:c.-48C>T (CRYBB1) | XP_011528201.1:n.-48C>T | |
| NM_001887.4:c.-58C>T (CRYBB1) MANE Select | NP_001878.1:n.-58C>T | |
| XM_006724140.3:c.4-4570G>A (CRYBA4) | XP_006724203.1:n.4-4570G>A | |
| XM_011529899.3:c.-48C>T (CRYBB1) | XP_011528201.1:n.-48C>T |